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Variance quantitative trait loci reveal gene-gene interactions which alter blood traits.
medRxiv
September 2024
Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Article Synopsis
- Gene-gene interactions (GxG) are crucial for understanding the genetic basis of traits and diseases, helping to explain the "missing heritability" in both polygenic and monogenic traits in humans.* -
- Researchers employed two variance QTL (vQTL) methods to uncover GxG interactions linked to human blood traits and disease risk, using data from large cohorts like the UK Biobank, NIH All of Us, and Vanderbilt BioVU.* -
- The study revealed significant GxG interactions, including known and novel ones affecting eosinophil and lymphocyte counts, as well as the risk of celiac disease and hematological conditions, showcasing the effectiveness of vQTL approaches in human health research.*
Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes.
Leuk Res
November 2024
Centre for Cancer Biology, Alliance between SA Pathology and University of South Australia, Adelaide, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Epidemiological evidence of familial predispositions to myeloid malignancies and myeloproliferative neoplasms (MPN) has long been recognised, but recent studies have added to knowledge of specific germline variants in multiple genes that contribute to the familial risk. These variants may be common risk alleles in the general population but have low penetrance and cause sporadic MPN, such as the JAK2 46/1 haplotype, the variant most strongly associated with MPN. Association studies are increasingly identifying other MPN susceptibility genes such as TERT, MECOM, and SH2B3, while some common variants in DDX41 and RUNX1 appear to lead to a spectrum of myeloid malignancies.
View Article and Find Full Text PDFExploring hematological alterations and genetics linked to SNV rs10974944 in myeloproliferative neoplasms among Amazon patients.
Sci Rep
April 2024
Programa de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus, AM, 69850-000, Brazil.
BCR::ABL1-negative myeloproliferative neoplasms are hematopoietic disorders characterized by panmyelosis. JAK2 V617F is a frequent variant in these diseases and often occurs in the 46/1 haplotype. The G allele of rs10974944 has been shown to be associated with this variant, specifically its acquisition, correlations with familial cases, and laboratory alterations.
View Article and Find Full Text PDFAssociations of A20, CYLD, Cezanne and JAK2 Genes and Immunophenotype with Psoriasis Susceptibility.
Medicina (Kaunas)
October 2023
Institute of Genome Research, Vietnam Academy of Science and Technology, Hoang Quoc Viet, Ha Noi 100000, Vietnam.
: Psoriasis is an immune-mediated chronic inflammatory skin disorder and commonly associated with highly noticeable erythematous, thickened and scaly plaques. Deubiquitinase genes, such as tumor necrosis factor-alpha protein 3 (TNFAIP3, A20), the cylindromatosis (CYLD) and Cezanne, function as negative regulators of inflammatory response through the Janus kinase/signal transducers and activators of transcription (JAK-STAT) pathways. In this study, polymorphisms and expressions of A20, CYLD and Cezanne genes as well as immunophenotype in psoriatic patients were determined.
View Article and Find Full Text PDFAssociation between Polymorphism in the Janus Kinase 2 () Gene and Selected Performance Traits in Cattle and Sheep.
Animals (Basel)
July 2023
National Research Institute of Animal Production, Kraków, Experimental Department, Kołbacz, 1 Warcisława Street, 74-106 Stare Czarnowo, Poland.
The Janus Kinase 2 (JAK2) tyrosine kinase is an essential component of signal transduction of the class II cytokine receptors, including the growth hormone receptor. Therefore, it may play a crucial role in the signaling pathway of the somatotropic axis, which influences growth, development, and reproductive traits in ruminants. For this purpose, for three breeds of cattle (Hereford, Angus, and Limousin; a total of 781 individuals), two polymorphic sites located in exon 16 (rs210148032; p.
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